Canonical Allele Identifier: CA229747

Gene: PAH

Linked Data

• ClinVar Variation Id: 600
• ClinVar RCV Id: RCV000000631 ; RCV000089083
• dbSNP Id: rs62642930
• MyVariant Identifiers: chr12:g.103246671A>G (hg19) ; chr12:g.102852893A>G (hg38)
• PubMed: PMID:2014802

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102852893A>G , CM000674.2:g.102852893A>G	GRCh38
NC_000012.11:g.103246671A>G , CM000674.1:g.103246671A>G	GRCh37
NC_000012.10:g.101770801A>G	NCBI36
NG_008690.1:g.69710T>C
NG_008690.2:g.110518T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.764T>C MANE Select	ENSP00000448059.1:p.Leu255Ser
ENST00000307000.7:c.749T>C	ENSP00000303500.2:p.Leu250Ser
ENST00000549247.6:n.523T>C
ENST00000553106.5:c.764T>C	ENSP00000448059.1:p.Leu255Ser
NM_000277.1:c.764T>C	NP_000268.1:p.Leu255Ser
XM_011538422.1:c.764T>C	XP_011536724.1:p.Leu255Ser
NM_000277.2:c.764T>C	NP_000268.1:p.Leu255Ser
NM_001354304.1:c.764T>C	NP_001341233.1:p.Leu255Ser
NM_000277.3:c.764T>C MANE Select	NP_000268.1:p.Leu255Ser
NM_001354304.2:c.764T>C	NP_001341233.1:p.Leu255Ser